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Inherited Prothrombotic States and Ischaemic Stroke in Childhood
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J Pediatr 111:562-564, Israels,S.J.&Seshia,S.S., 1987
Mendelian Etiologies of Stroke
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MELAS Syndrome Involving a Mother & Two Children
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Familial Stroke Syndrome Associated with Mitral Valve Prolapse
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Mirror Movements after Childhood Hemiparesis
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Molybdenum Cofactor Deficiency
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Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Sturge-Weber Syndrome
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
The Floppy Infant: Evaluation of Hypotonia
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Epilepsy Syndromes in Infancy
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Natural History of Nonketotic Hyperglycinemia in 65 Patients
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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De Novo Mutation in the Notch3 Gene Causing CADASIL
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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Cerebrovascular Complications of Fabry's Disease
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Ischemic Stroke in Young Pts with Activated Protein C Resistance:Rpt of Three Cases Belonging to Three Different Kindreds
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Familial Subarachnoid Hemorrhage:Distinctive Features and Patterns of Inheritance
Ann Neurol 38:929-934, Bromberg,J.E.C.,et al, 1995
Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Clinicopath Conf
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Superior Sagittal Sinus Thrombosis in a Patient with Protein S Deficiency
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Hematologic Disorders and Ischemic Stroke
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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Familial Hyperlipidemia in Stroke in the Young
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Identical Twins with Hereditary Hemorrhagic Telangiectasia Concordant for Cerebrovascular Arteriovenous Malformations
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Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
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